{"orpha":329931,"name":"C3 glomerulonephritis","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329931/","orphanet_url":"https://www.orpha.net/en/disease/detail/329931","names":{"fr":{"name":"Glomérulonéphrite à dépôts de C3","definition":"Sous-type histologique de glomérulopathie à dépôts de C3, caractérisé par un dépôt de C3 dans le tissu rénal en l'absence ou la quasi-absence de dépôts d'immunoglobulines chez un patient présentant des signes cliniques classiques de glomérulonéphrite et des dépôts à prédominance sous-endothéliale observés par microscopie électronique (en forme de « bosses ») et intramembranaires, en l'absence de dépôts denses aux électrons en microscopie, typiques de la maladie de dépôts denses."},"de":{"name":"C3-Glomerulonephritis","definition":"Ein histologischer Subtyp der C3-Glomerulopathie, der durch C3-Ablagerungen im Nierengewebe in Abwesenheit oder nahezu Abwesenheit von Immunglobulinablagerungen gekennzeichnet ist, und zwar bei einem Patienten mit den klassischen klinischen Merkmalen einer Glomerulonephritis und dem elektronenmikroskopischen Befund vorherrschender subendothelialer, gelegentlich subepithelialer (so genannter ,,Höcker'') und intramembranöser Ablagerungen, jedoch ohne die typischen elektronendichten Ablagerungen der Dense Deposit Disease."},"es":{"name":"Glomerulonefritis C3","definition":"Es un subtipo histológico de glomerulopatía por C3 caracterizado por el depósito de C3 en el tejido renal en ausencia total o parcial de depósitos de inmunoglobulinas, en un paciente con características clínicas clásicas de glomerulonefritis y hallazgos por microscopía electrónica de depósitos subendoteliales predominantes, ocasionalmente subepiteliales (''jorobas''), e intramembranosos, pero sin los típicos depósitos electrodensos de la enfermedad por depósitos densos."},"it":{"name":"Glomerulonefrite C3"},"nl":{"name":"C3-glomerulonefritis","definition":"Een histologisch subtype van C3-glomerulopathie, gekenmerkt door depositie van C3 in nierweefsel in afwezigheid of bijna afwezigheid van afzettingen van immunoglobulinen, bij een patiënt met de klassieke klinische kenmerken van glomerulonefritis en bevindingen van elektronmicroscopie van hoofdzakelijk subendotheliale, soms subepitheliale (zogenaamde ''bulten''), en intramembraneuze deposities, maar zonder de typische elektronendense afzettingen van dense deposit-ziekte."},"pt":{"name":"Glomerulonefrite C3"},"pl":{"name":"Kłębuszkowe zapalenie nerek C3"},"cs":{"name":"Glomerulonefritida spojená s poklesem C3"},"uk":{"name":"С3 гломерулонефрит","definition":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease."},"zh":{"name":"C3肾小球肾炎"},"tr":{"name":"C3 glomerülonefrit"}},"xrefs":[{"source":"OMIM","code":"609814","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614809","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N03.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF8Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4055342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93559,"name":"C3 deposition glomerulonephritis without proliferation","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":329918,"name":"C3 glomerulopathy","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"CFH","name":"complement factor H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17018561[PMID]","hgnc":"4883","ensembl":"ENSG00000000971","omim":"134370","loci":["1q31.3"]},{"symbol":"CFHR1","name":"complement factor H related 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23728178[PMID]","hgnc":"4888","ensembl":"ENSG00000244414","omim":"134371","loci":["1q31.3"]},{"symbol":"CFHR5","name":"complement factor H related 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20800271[PMID]_22503529[PMID]_23026947[PMID]","hgnc":"24668","ensembl":"ENSG00000134389","omim":"608593","loci":["1q31.3"]},{"symbol":"CFHR2","name":"complement factor H related 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"31980588[PMID]","hgnc":"4890","ensembl":"ENSG00000080910","omim":"600889","loci":["1q31.3"]},{"symbol":"CFHR3","name":"complement factor H related 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22626820[PMID]","hgnc":"16980","ensembl":"ENSG00000116785","omim":"605336","loci":["1q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}